ClinVar Miner

List of variants studied for diazoxide-resistant focal hyperinsulinism

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 268
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HGVS dbSNP
ABCC8, IVS8, A-G, -1013
NM_000352.4(ABCC8):c.-190C>G rs1395224084
NM_000352.4(ABCC8):c.4117_4119del (p.Lys1373del) rs1554905655
NM_000352.4:c.(?_1818)_(1923_?)del
NM_000525.3(KCNJ11):c.-134G>T rs387906398
NM_000525.3(KCNJ11):c.-135_-134insCT rs1554901983
NM_000525.3(KCNJ11):c.-54C>T rs1016780684
NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) rs5215
NM_000525.3(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530
NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678
NM_000525.3(KCNJ11):c.1040G>A (p.Arg347His) rs771797701
NM_000525.3(KCNJ11):c.1064dup (p.Leu356fs) rs1337406718
NM_000525.3(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160
NM_000525.3(KCNJ11):c.1094G>A (p.Arg365His) rs750689750
NM_000525.3(KCNJ11):c.1112G>A (p.Arg371His) rs1233061680
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) rs8175351
NM_000525.3(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000525.3(KCNJ11):c.154C>T (p.Gln52Ter) rs879253757
NM_000525.3(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_000525.3(KCNJ11):c.264G>T (p.Met88Ile) rs1554901866
NM_000525.3(KCNJ11):c.290dup (p.His97fs) rs1554901854
NM_000525.3(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851
NM_000525.3(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531
NM_000525.3(KCNJ11):c.365T>C (p.Leu122Pro)
NM_000525.3(KCNJ11):c.36C>A (p.Tyr12Ter) rs104894236
NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274
NM_000525.3(KCNJ11):c.407G>A (p.Arg136His) rs1479483693
NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro) rs28936678
NM_000525.3(KCNJ11):c.463G>A (p.Val155Met) rs587783668
NM_000525.3(KCNJ11):c.466G>A (p.Gly156Arg) rs1404429785
NM_000525.3(KCNJ11):c.498C>A (p.Cys166Ter) rs587783669
NM_000525.3(KCNJ11):c.527G>A (p.Arg176His) rs1266231295
NM_000525.3(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.575G>A (p.Arg192His) rs750778014
NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) rs5217
NM_000525.3(KCNJ11):c.617G>T (p.Arg206Leu) rs1554901747
NM_000525.3(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu) rs104894237
NM_000525.3(KCNJ11):c.765_771dup (p.Tyr258fs) rs1554901690
NM_000525.3(KCNJ11):c.776A>G (p.His259Arg) rs104894248
NM_000525.3(KCNJ11):c.797C>T (p.Pro266Leu) rs1554901679
NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_000525.3(KCNJ11):c.80G>A (p.Arg27His) rs774714794
NM_000525.3(KCNJ11):c.841_843del (p.Leu281del) rs1554901658
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_000525.3(KCNJ11):c.853G>A (p.Val285Ile) rs149667199
NM_000525.3(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.3(KCNJ11):c.866G>T (p.Gly289Val) rs797045637
NM_000525.3(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) rs780957825
NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) rs74339576
NM_000525.3(KCNJ11):c.970G>A (p.Gly324Arg) rs1193170151
NM_000525.3(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_001166290.2(KCNJ11):c.98_101CCTT[1] (p.Leu35fs) rs1554901829
NM_001287174.2(ABCC8):c.1012-2A>G rs1554938866
NM_001287174.2(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672
NM_001287174.2(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_001287174.2(ABCC8):c.115_123del (p.Leu39_Phe41del) rs1554949238
NM_001287174.2(ABCC8):c.1177-1G>A rs1167993548
NM_001287174.2(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_001287174.2(ABCC8):c.1243G>A (p.Gly415Arg) rs1564955779
NM_001287174.2(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_001287174.2(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263
NM_001287174.2(ABCC8):c.126_146dup (p.Thr43_Ile49dup) rs1554949190
NM_001287174.2(ABCC8):c.1332+4del rs587783164
NM_001287174.2(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_001287174.2(ABCC8):c.1391C>T (p.Ala464Val) rs1554933525
NM_001287174.2(ABCC8):c.145A>T (p.Ile49Phe) rs1554949196
NM_001287174.2(ABCC8):c.1467+1G>T rs1554933415
NM_001287174.2(ABCC8):c.1467+2T>C rs1057517128
NM_001287174.2(ABCC8):c.1468-2A>C rs1057516946
NM_001287174.2(ABCC8):c.148+2T>G rs1554949176
NM_001287174.2(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296
NM_001287174.2(ABCC8):c.149-1G>A rs1554948445
NM_001287174.2(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320
NM_001287174.2(ABCC8):c.1508T>C (p.Leu503Pro) rs1554933168
NM_001287174.2(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206
NM_001287174.2(ABCC8):c.1536C>G (p.Tyr512Ter) rs765090096
NM_001287174.2(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984
NM_001287174.2(ABCC8):c.1585_1587del (p.Glu529del) rs1554933031
NM_001287174.2(ABCC8):c.1603_1604insA (p.Ala535fs) rs1057516665
NM_001287174.2(ABCC8):c.1630+1G>T rs773306994
NM_001287174.2(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_001287174.2(ABCC8):c.1671+1G>C rs1057516509
NM_001287174.2(ABCC8):c.1672-20A>G
NM_001287174.2(ABCC8):c.1678G>A (p.Val560Met) rs4148619
NM_001287174.2(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_001287174.2(ABCC8):c.1752del (p.His584fs) rs1554926539
NM_001287174.2(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569
NM_001287174.2(ABCC8):c.1817+1G>T rs1554926476
NM_001287174.2(ABCC8):c.1817+2_1817+6del rs1554926465
NM_001287174.2(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_001287174.2(ABCC8):c.1879del (p.His627fs) rs764613146
NM_001287174.2(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_001287174.2(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550
NM_001287174.2(ABCC8):c.2041-12C>A rs201419039
NM_001287174.2(ABCC8):c.2041-1G>A rs1554924630
NM_001287174.2(ABCC8):c.2041-21G>A rs746714109
NM_001287174.2(ABCC8):c.2041-25G>A rs1554924660
NM_001287174.2(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
NM_001287174.2(ABCC8):c.2098_2099del (p.Thr700fs) rs1057516542
NM_001287174.2(ABCC8):c.2116+1G>A rs1554924540
NM_001287174.2(ABCC8):c.2116+1G>T rs1554924540
NM_001287174.2(ABCC8):c.2116+2T>C rs786204676
NM_001287174.2(ABCC8):c.2117-1G>A rs797045207
NM_001287174.2(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) rs786204717
NM_001287174.2(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_001287174.2(ABCC8):c.2147G>T (p.Gly716Val) rs72559723
NM_001287174.2(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850
NM_001287174.2(ABCC8):c.2180T>G (p.Leu727Arg) rs1554924079
NM_001287174.2(ABCC8):c.2202del (p.Ala736fs) rs1554924035
NM_001287174.2(ABCC8):c.220C>T (p.Arg74Trp) rs201682634
NM_001287174.2(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_001287174.2(ABCC8):c.2222+15C>A rs377174421
NM_001287174.2(ABCC8):c.2222+1G>A rs1554923999
NM_001287174.2(ABCC8):c.2222+1G>T rs1554923999
NM_001287174.2(ABCC8):c.2258+2T>C rs1057516589
NM_001287174.2(ABCC8):c.2259-16del rs774508952
NM_001287174.2(ABCC8):c.2295-1G>A rs1564905676
NM_001287174.2(ABCC8):c.2298_2310delinsAA (p.Arg767fs) rs1554917411
NM_001287174.2(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_001287174.2(ABCC8):c.2457_2459del (p.Asp819_Gln820delinsGlu) rs1554916621
NM_001287174.2(ABCC8):c.2478+19G>A rs373894772
NM_001287174.2(ABCC8):c.2488C>T (p.Leu830=) rs1805036
NM_001287174.2(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001287174.2(ABCC8):c.250G>A (p.Val84Ile) rs775776658
NM_001287174.2(ABCC8):c.2525G>A (p.Arg842Gln) rs547150342
NM_001287174.2(ABCC8):c.2559+1G>A rs749271190
NM_001287174.2(ABCC8):c.2669A>C (p.Lys890Thr) rs761862121
NM_001287174.2(ABCC8):c.2686dup (p.His896fs) rs1057517019
NM_001287174.2(ABCC8):c.2697+1G>C rs774574576
NM_001287174.2(ABCC8):c.2697+3G>A rs1554914779
NM_001287174.2(ABCC8):c.2697+4A>T rs1554914771
NM_001287174.2(ABCC8):c.2698-1G>C rs1057517420
NM_001287174.2(ABCC8):c.2800C>T (p.Arg934Ter) rs570388861
NM_001287174.2(ABCC8):c.2836_2837GA[1] (p.Arg947fs) rs1554913069
NM_001287174.2(ABCC8):c.2860C>T (p.Gln954Ter) rs541269678
NM_001287174.2(ABCC8):c.290+2T>C rs1554948310
NM_001287174.2(ABCC8):c.291-2A>G rs786204695
NM_001287174.2(ABCC8):c.2924-9G>A rs757171524
NM_001287174.2(ABCC8):c.2995C>T (p.Arg999Ter) rs769518471
NM_001287174.2(ABCC8):c.307C>T (p.His103Tyr) rs751209734
NM_001287174.2(ABCC8):c.3091G>A (p.Asp1031Asn) rs1225850029
NM_001287174.2(ABCC8):c.3111G>A (p.Trp1037Ter) rs1057516585
NM_001287174.2(ABCC8):c.3127_3129delinsCAGCCAGGAACTG (p.Thr1043fs) rs786204542
NM_001287174.2(ABCC8):c.3133_3152del (p.Thr1045fs) rs886041392
NM_001287174.2(ABCC8):c.3154_3165+15del rs1554912381
NM_001287174.2(ABCC8):c.3246_3254del (p.Ser1083_Thr1085del) rs1271445653
NM_001287174.2(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_001287174.2(ABCC8):c.3402+13G>A rs182340196
NM_001287174.2(ABCC8):c.3402+1G>A rs1554911369
NM_001287174.2(ABCC8):c.3403-1G>A rs576684889
NM_001287174.2(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_001287174.2(ABCC8):c.3449_3450GT[1] (p.Val1151fs) rs1263082097
NM_001287174.2(ABCC8):c.3473_3475del (p.Ser1158del) rs1554910736
NM_001287174.2(ABCC8):c.3512del (p.Leu1171fs) rs587783169
NM_001287174.2(ABCC8):c.3528C>G (p.Tyr1176Ter) rs1057516439
NM_001287174.2(ABCC8):c.3556_3560dup (p.Arg1187fs) rs1554910621
NM_001287174.2(ABCC8):c.3560+1G>A rs1554910610
NM_001287174.2(ABCC8):c.3560+1G>T rs1554910610
NM_001287174.2(ABCC8):c.3560+1del rs1554910616
NM_001287174.2(ABCC8):c.3577del (p.Asp1193fs) rs1057516317
NM_001287174.2(ABCC8):c.3643C>T (p.Arg1215Trp) rs139964066
NM_001287174.2(ABCC8):c.3653+2T>A rs1057517274
NM_001287174.2(ABCC8):c.369_370dup (p.Tyr124fs) rs1554946437
NM_001287174.2(ABCC8):c.3739T>C (p.Trp1247Arg) rs1554906790
NM_001287174.2(ABCC8):c.3751C>T (p.Arg1251Ter) rs1057516281
NM_001287174.2(ABCC8):c.3756+1G>A rs1554906786
NM_001287174.2(ABCC8):c.3757-1G>A rs1554906449
NM_001287174.2(ABCC8):c.3757-2A>G rs1554906450
NM_001287174.2(ABCC8):c.3762_3770dup (p.Ile1255_Ala1257dup) rs1554906427
NM_001287174.2(ABCC8):c.3766G>A (p.Gly1256Ser) rs1185034563
NM_001287174.2(ABCC8):c.3791C>A (p.Ala1264Glu) rs772094360
NM_001287174.2(ABCC8):c.3822G>A (p.Arg1274=) rs1799859
NM_001287174.2(ABCC8):c.3870+7G>A rs372198547
NM_001287174.2(ABCC8):c.3871-1G>A rs766431403
NM_001287174.2(ABCC8):c.3908C>T (p.Ala1303Val) rs1340859533
NM_001287174.2(ABCC8):c.3941G>A (p.Arg1314His) rs372153432
NM_001287174.2(ABCC8):c.3992-3C>G rs1324242791
NM_001287174.2(ABCC8):c.3992-9G>A rs151344623
NM_001287174.2(ABCC8):c.4011G>C (p.Lys1337Asn) rs67767715
NM_001287174.2(ABCC8):c.4015T>A (p.Trp1339Arg) rs1554905805
NM_001287174.2(ABCC8):c.4024C>T (p.Gln1342Ter) rs1057516718
NM_001287174.2(ABCC8):c.4029_4030insC (p.Lys1344fs) rs1554905787
NM_001287174.2(ABCC8):c.403C>G (p.Leu135Val) rs368450282
NM_001287174.2(ABCC8):c.4058G>C (p.Arg1353Pro) rs28936370
NM_001287174.2(ABCC8):c.4075_4076delinsT (p.Lys1359fs) rs1057516890
NM_001287174.2(ABCC8):c.4099G>A (p.Ala1367Thr) rs1554905695
NM_001287174.2(ABCC8):c.4100C>A (p.Ala1367Asp) rs746811190
NM_001287174.2(ABCC8):c.4112C>T (p.Pro1371Leu) rs1554905662
NM_001287174.2(ABCC8):c.4122+1G>A rs797045211
NM_001287174.2(ABCC8):c.4122+1del rs1057517050
NM_001287174.2(ABCC8):c.4123-1G>T rs1057517406
NM_001287174.2(ABCC8):c.413-2A>G rs1057517015
NM_001287174.2(ABCC8):c.413-5G>A rs186946111
NM_001287174.2(ABCC8):c.4135G>C (p.Gly1379Arg) rs925231098
NM_001287174.2(ABCC8):c.4138C>A (p.Arg1380Ser) rs137852673
NM_001287174.2(ABCC8):c.4144G>A (p.Gly1382Ser) rs773448052
NM_001287174.2(ABCC8):c.4149T>G (p.Ser1383Arg) rs886039877
NM_001287174.2(ABCC8):c.4157_4159CCT[1] (p.Ser1387del) rs387906408
NM_001287174.2(ABCC8):c.415del (p.Leu139fs) rs1057516591
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624
NM_001287174.2(ABCC8):c.4181G>A (p.Arg1394His) rs769279368
NM_001287174.2(ABCC8):c.4201G>A (p.Gly1401Arg) rs137852676
NM_001287174.2(ABCC8):c.4256G>A (p.Arg1419His) rs1446306735
NM_001287174.2(ABCC8):c.4256G>T (p.Arg1419Leu) rs1446306735
NM_001287174.2(ABCC8):c.4261C>T (p.Arg1421Cys) rs28938469
NM_001287174.2(ABCC8):c.4278_4294del (p.Asp1428fs) rs1554904904
NM_001287174.2(ABCC8):c.4309C>T (p.Arg1437Ter) rs193922402
NM_001287174.2(ABCC8):c.4310G>A (p.Arg1437Gln) rs387906407
NM_001287174.2(ABCC8):c.4311-2A>G rs886041391
NM_001287174.2(ABCC8):c.4325del (p.Pro1442fs) rs758844607
NM_001287174.2(ABCC8):c.4343_4365del (p.Asp1448fs) rs1554904554
NM_001287174.2(ABCC8):c.4352T>C (p.Leu1451Pro) rs1554904565
NM_001287174.2(ABCC8):c.4356G>A (p.Trp1452Ter) rs1057516404
NM_001287174.2(ABCC8):c.4379T>G (p.Leu1460Arg) rs971604271
NM_001287174.2(ABCC8):c.4414G>A (p.Asp1472Asn) rs72559716
NM_001287174.2(ABCC8):c.4415-13G>A rs1008906426
NM_001287174.2(ABCC8):c.4415-2A>G rs1554904136
NM_001287174.2(ABCC8):c.4434C>T (p.Gly1478=) rs145673861
NM_001287174.2(ABCC8):c.4435G>A (p.Gly1479Arg) rs72559715
NM_001287174.2(ABCC8):c.4449C>A (p.Ser1483Arg) rs1554904107
NM_001287174.2(ABCC8):c.4453G>A (p.Gly1485Arg) rs1554904102
NM_001287174.2(ABCC8):c.4454G>A (p.Gly1485Glu) rs193922405
NM_001287174.2(ABCC8):c.4454G>T (p.Gly1485Val) rs193922405
NM_001287174.2(ABCC8):c.4459_4464del (p.Arg1487_Gln1488del) rs1554904088
NM_001287174.2(ABCC8):c.4477del (p.Ala1493fs) rs1057516655
NM_001287174.2(ABCC8):c.4480C>T (p.Arg1494Trp) rs28936371
NM_001287174.2(ABCC8):c.4481G>A (p.Arg1494Gln) rs746480424
NM_001287174.2(ABCC8):c.4519G>A (p.Glu1507Lys) rs137852671
NM_001287174.2(ABCC8):c.4519_4539dup (p.Glu1507_Asp1513dup) rs797045212
NM_001287174.2(ABCC8):c.4548+2T>G rs1554904006
NM_001287174.2(ABCC8):c.4566G>C (p.Lys1522Asn) rs142272833
NM_001287174.2(ABCC8):c.4610C>T (p.Ala1537Val) rs745918247
NM_001287174.2(ABCC8):c.4611G>A (p.Ala1537=) rs1439464815
NM_001287174.2(ABCC8):c.4615C>T (p.Arg1539Ter) rs1411638309
NM_001287174.2(ABCC8):c.4618G>A (p.Val1540Met) rs193922408
NM_001287174.2(ABCC8):c.4631T>C (p.Leu1544Pro) rs72559713
NM_001287174.2(ABCC8):c.4688del (p.Pro1563fs) rs1554903370
NM_001287174.2(ABCC8):c.512dup (p.Thr172fs) rs1564980510
NM_001287174.2(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_001287174.2(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_001287174.2(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_001287174.2(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_001287174.2(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_001287174.2(ABCC8):c.579+2T>A rs1449198328
NM_001287174.2(ABCC8):c.584dup (p.Tyr195Ter) rs1057517199
NM_001287174.2(ABCC8):c.589_591TTC[1] (p.Phe198del) rs772409200
NM_001287174.2(ABCC8):c.62T>A (p.Val21Asp) rs200670692
NM_001287174.2(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_001287174.2(ABCC8):c.686C>T (p.Thr229Ile) rs768017509
NM_001287174.2(ABCC8):c.691T>C (p.Trp231Arg) rs1554942704
NM_001287174.2(ABCC8):c.692G>A (p.Trp231Ter) rs1057517139
NM_001287174.2(ABCC8):c.795dup (p.Leu266fs) rs1057516654
NM_001287174.2(ABCC8):c.823-1G>A rs1247430874
NM_001287174.2(ABCC8):c.823-7T>A rs1554942148
NM_001287174.2(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_001287174.2(ABCC8):c.878A>C (p.His293Pro) rs587783175
NM_001287174.2(ABCC8):c.886G>A (p.Gly296Arg) rs148529020
NM_001287174.2(ABCC8):c.917G>A (p.Arg306His) rs1409900082
NM_001287174.2(ABCC8):c.926C>G (p.Ala309Gly) rs149347593
NM_001287174.2(ABCC8):c.97G>T (p.Val33Leu) rs768372267

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